PART 3 HENRYS

Question 1

ENDOGENOUS HYPERINSULINISM
1. supervised fast
2. most common tumors of islet cells
3. negative _____ blood/urine screen
4. further diagnostic test samples(2)

Answer 1

1. 72HR FAST
2. INSULINOMAS s
3. sulfonyl-urea/meglitinide
4. -computed tomography (CT)
   -magnetic resonance imaging (MRI)

Question 2

ALIMENTARY HYPOGLYCEMIA
1. occurs usually within ___ after eating
2. characterized by vasomotor symptoms, such as sweating, dizziness, and weakness, which
usually occur less than an hour after ingestion
3. Hypoglycemia has been described in patients who have undergone bariatric surgery for obesity, particularly after ________
4. patients usually have a history of “spells” of postprandial hypoglycemia that fulfill ______
5. spontaneous symptoms suggestive of hypoglycemia but have a normal laboratory evaluation
6. at risk for LATE DUMPING SYNDROME (2)
7. glucosidase inhibitor that slows carbohydrate digestion

Answer 2

1. 4HRS
2. DUMPING SYNDROME
3. Roux-en-Y gastric bypass
4. WHIPPLE’s TRIAD
5. IDIOPATHIC REACTIVE HYPOGLYCEMIA
6. NISSEN FUNDOPLICATION and GASTROSTOMY TUBE
7. ACARBOSE

Question 3

AUTOIMMUNE-RELATED HYPOGLYCEMIA

1. rare condition typically diagnosed in the third to fifth decades of life; more common in women and in persons African heritage
2. hyperglycemia may be the initial metabolic derangement
3. hypoglycemia
4. hypoglycemia may develop some time later in 14% of patients who
   initially present with hyperglycemia
5. _____ & _____ may also be present

Answer 3

1. TYPE B INSULIN RESISTANCE
2. 80%
3. 20%
4. 14%
5. SYSTEMIC LUPUS ERYTHEMATOSUS & HASHIMOTO THYROIDITIS

Question 4

HYPOGLYCEMIA IN INFANCY & CHILDHOOD

1. usually a problem of
2. ___ significantly HIGHER IN INFANTS
3. INCREASED
4. DECREASE
5. ELEVATED
6. mobilize glucose thru ____ & _____
7. activate ______
8. promote ______

Answer 4

1. FASTING ADAPTATION
2. GLUCOSE UTILIZATION
3. glucagon and catecholamine
4. insulin levels
5. growth hormone levels
6. glycogenolysis & gluconeogenesis
7. lipolysis
8. ketogenesis

Question 5

HYPOGLYCEMIA IN INFANCY & CHILDHOOD

1. occur in normal-term infants and is associated w/ immature hepatic
   gluconeogenesis and ketogenesis
2. PLASMA GLYCOSE CONC
   - first 6hrs
   - 2nd day of life
3. possibly mediated by intravenous glucose or formula feed
4. due to maternal β-blocker medication use
5. babies are usually large & plethoric; seen in infants of women with poorly controlled diabetes mellitus
6. median age of resolution
7. infants respond to this medical therapy
8. sign of coexistent gonadotropin deficiency present in infants

Answer 5

1. TRANSIENT NEONATAL HYPOGLYCEMIA
2. PLASMA GLYCOSE CONC
   - <50mg/dL
   - less than 0.5 of above
3. BLUNTED GLUCAGON SURGE
4. INSUFFICIENT CATECHOLAMINE RELEASE
5. NEONATAL HYPERINSULINISM
6. 6 MONTHS
7. DIAZOXIDE
8. MICROPHALLUS

Question 6

CONGENITAL HYPERINSULINISM

1. BETA CELL Katp channel has 2 subunits:
   - _______ = encoded by ____
   - _______ = encoded by ____
2. mutations in _____ & ______ are additional causes of CHI
3. 2ND MOST COMMON CAUSE OF CHI
4. activating mutations of _____, the “glucose sensor” of the beta cell, lowers the glucose threshold for insulin release
5. fetal overgrowth syndrome caused by genetic defects affecting imprinted
   region
   - region

Answer 6

1. BETA CELL Katp channel has 2 subunits:
   - Kir6.2; encoded by KCNJ11
   - sulfonylurea receptor; encoded by ABCC8
2. GLUCOKINASE & GLUTAMATE DEHYDROGENASE
3. hyperammonemia syndrome
4. GLUCOKINASE
5. BECKWITH WIEDEMANN SYNDROME
   - 11p15.4

Question 7

CONGENITAL HYPERINSULINISM

1. linked to monoallelic de novo mutations of lysine-specific methyltransferase 2D (MLL2,
   encoded by KMT2D), & lysine-
   specific demethylase 6A (KDM6A on Xp11.3)
2. been reported to occur with increased frequency in infants; mechanism is unknown
3. give 1 genetic defects that disrupt protein glycosylation
4. most common noniatrogenic cause of hypoglycemia in children between 18 months and 5 years

Answer 7

1. KABUKI SYNDROME
2. TURNER SYNDROME
3. CDG1a (phosphomannomutase 2 deficiency)
4. KETOGENIC HYPOGLYCEMIA

Question 8

1. GSD BLOOD GLUCOSE LEVWL
2. ___ & ___5 serve as alternate sources of energy
3. only GSD involve to GLYCOGENOLYSIS & GLUCONEOGENESIS
4. can be used for prenatal diagnosis

Answer 8

1. 20-50mg/dL
2. KETONES and LACTIC ACID
3. GSD TYPE IA
4. DNA MUTATION ANALYSIS

Question 9

DISORDERS OF GLUCONEOGENESIS

1. usually occurs during periods of metabolic decompensation, which can be spontaneous or
   triggered by illnesses or prolonged fasting.
   - prominent symptoms (2)
2. autosomal-­ recessive disorder resulting in failure of hepatic glucose generation bygluconeogenic precursors
3. Hereditary fructose intolerance defect in _______
4. Lab diagnosis:
   - abnormal
   - elevated
5. Aminoaciduria, proximal tubular acidosis, and hypophosphatemia may be present due to development of _______
6. detected by analyzing the urine for reducing substances

Answer 9

1. Hypoglycemia
   - Vomiting and Tachypnea
2. Fructose-1,6-bisphosphatase deficiency
3. fructose-1,6-bisphosphate aldolase B
4. Lab diagnosis:
   - Liver function
   - Tyrosine and Methionine
5. Fanconi tubulopathy
6. Fructosuria

Question 10

1. monosaccharide transporter primarily present in the plasma membranes of pancreatic beta cells, renal tubule cells, and hepatocytes
2. associated with impairment of gluconeogenesis, which causes fasting hypoglycemia and leads to glycogen accumulation and enlargement of the liver and kidney
3. impaired, it will lead to Fanconi-
   ­ like tubulopathy
4. mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate a key substrate in gluconeogenesis
5. catalyzes the decarboxylation of oxaloacetate to phosphoenolpyruvate
   (PEP), which, in turn, can be converted to glucose, glycerol, or pyruvate.

Answer 10

1. GLUT 2
2. Fanconi-Bickel syndrome (GLUT2 deficiency)
3. Renal tubular function
4. Pyruvate carboxylase
5. Phosphoenolpyruvate carboxykinase

Question 11

DEFECTS IN GALACTOSE METABOLISM

1. metabolism of galactose to glucose occurs in a series of three reactions (3)
2. most common mutation of the GALT gene is the _____ mutation
   - encoded by gene on chromosome __
3. mutation within the GALT gene
4. galactose cannot be converted into Gal-1-P
5. galactose to galactitol is mediated by ____

Answer 11

1. Leloir pathway
2. Q188R
   - chromosome 9
3. “Duarte variant”
4. GALK deficiency
5. galactose to galactitoL

Question 12

1. autosomal-recessive disorder resulting from fructokinase deficiency
2. derived from glucose via the glycolytic pathway and deamination of alanine
3. which includes etiologies related to the presence of tissue
4. fructose-­1,6-bisphosphatase deficiency

Answer 12

1. Essential fructosuria
2. Lactic acid
3. Hereditary fructose intolerance
4. fructose-­1,6-bisphosphatase deficiency

Question 13

minor

1. widely prescribed for the treatment of type 2 diabetes,
2. excessive accumulation of d-lactic acid (the dextrorotatory form of lactic acid
3. Hyperlactatemia; blood lactate concentration of ≥____
4. diagnosed by the presence of high blood lactate levels

Answer 13

1. Metformin
2. d-­ Lactic acidosis
3. ≥2mmol/L
4. Severe hyperlactatemia (“lactic acidosis”)